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Current status and perspectives of hematopoietic cell transplantation in patients with paroxysmal nocturnal hemoglobinuria.
Front Immunol
January 2025
Department of Hematology and Transplantology, Medical University of Gdansk, Gdansk, Poland.
Background: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare complement-driven acquired hemolytic anemia with specific presentations of hemoglobinuria, abdominal pain, fatigue, and thrombosis.
Objective: To review the current therapeutic strategies for PNH, including anti-complement therapy and allogeneic hematopoietic cell transplantation (alloHCT), focusing on the tailoring of the approach to the disease subtype.
Results: The outcome of alloHCT varies depending on disease severity, thrombotic history, and response to prior therapies.
Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency.
Biomedica
December 2024
Servicio de Inmunología y Alergología, Fundación Universitaria Ciencias de la Salud - FUCS, Bogotá, D. C., Colombia.
Cernunnos/XLF deficiency is a rare, severe combined immunodeficiency, inherited in an autosomal recessive pattern (OMIM number: 611290), related to the NHEJ1 gene. This gene participates in the DNA non-homologous end-joining pathway, repairing double-strand breaks in the DNA of mammalian cells. The clinical features include growth retardation, microcephaly, triangle-shaped face, recurrent infections, fibroblast's excessive sensitivity to gamma-ionizing radiation, and hypogammaglobulinemia; also, low counts of subpopulations of B and T lymphocytes, with normal values of natural-killer cells.
View Article and Find Full Text PDFA novel case of glial transdifferentiation in renal medullary carcinoma brain metastasis.
Acta Neuropathol Commun
January 2025
Department of Genitourinary Medical Oncology, The University of Texas MD Anderson Cancer Center Unit 1374, 1155 Pressler St, Houston, TX, 77030-3721, USA.
Renal medullary carcinoma is a rare undifferentiated tumor of the kidney associated with sickle cell trait and characterized by INI1 (SMARCB1) loss. Although metastasis to lungs, lymph nodes, and bone is commonly reported, distant spread to the central nervous system almost never occurs. Here we present an unusual case of a patient with renal medullary carcinoma with metastasis to the brain following treatment which included tazemetostat, an EZH2 inhibitor.
View Article and Find Full Text PDFA comprehensive overview of FFRG and IHCC allograft cartilages in revision rhinoplasty: a systematic review.
Head Face Med
January 2025
College of Dentistry, Department of Oral & Maxillofacial Surgery, Gangneung-Wonju National University, Gangneung, South Korea.
Background: This study aims to compare the complications and satisfaction associated with favorable allografts, Fresh Frozen Rib Graft (FFRG) and Irradiated Homologous Costal Cartilage (IHCC), in revision rhinoplasty.
Methods: The PRISMA guidelines were adhered to in the conduct of this systematic review. No limitations were applied to the types of studies included.
Homologous In-Radiolabeled Platelet Survival and Sequestration Exploration for Refractory Immunologic Thrombocytopenic purpura in Children: A Strategy to Avoid Unnecessary Splenectomy.
Mol Imaging
January 2025
Nuclear Medicine Department, Montpellier University Hospital, University of Montpellier, Montpellier, France.
Immunologic thrombocytopenic purpura (ITP) is a condition that affects four to 18 per 100 000 children every year. In most cases, spontaneous remission occurs, but splenectomy may be proposed. Exploring the site of platelet sequestration can help to better predict potential poor responders to splenectomy, but In-radiolabeled platelet scintigraphy (IPS) can be difficult to perform in children with very few platelets.
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